Incidental Mutation 'R3834:Fam114a1'
| ID |
275532 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fam114a1
|
| Ensembl Gene |
ENSMUSG00000029185 |
| Gene Name |
family with sequence similarity 114, member A1 |
| Synonyms |
1190001N04Rik, 9130005N14Rik |
| MMRRC Submission |
040889-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3834 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
65127459-65199217 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 65163416 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 197
(T197I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031080
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031080]
[ENSMUST00000139366]
|
| AlphaFold |
Q9D281 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000031080
AA Change: T197I
PolyPhen 2
Score 0.650 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000031080
Gene: ENSMUSG00000029185
AA Change: T197I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF719
|
125 |
300 |
5e-65 |
PFAM |
|
low complexity region
|
355 |
365 |
N/A |
INTRINSIC |
|
low complexity region
|
413 |
432 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000139366
|
| SMART Domains |
Protein: ENSMUSP00000119284
Gene: ENSMUSG00000029185
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF719
|
121 |
177 |
7e-16 |
PFAM |
|
| Meta Mutation Damage Score |
0.3263 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
100% (44/44) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adh6a |
G |
A |
3: 138,033,275 (GRCm39) |
|
probably null |
Het |
| Bptf |
T |
C |
11: 106,964,683 (GRCm39) |
T1389A |
probably benign |
Het |
| Cfap54 |
A |
G |
10: 92,636,985 (GRCm39) |
|
probably benign |
Het |
| Cimip3 |
AC |
A |
17: 47,744,348 (GRCm39) |
|
probably benign |
Het |
| Coq5 |
G |
T |
5: 115,422,635 (GRCm39) |
G180W |
probably damaging |
Het |
| Cyp2d34 |
A |
G |
15: 82,500,947 (GRCm39) |
|
probably null |
Het |
| Cyp2j13 |
C |
T |
4: 95,944,794 (GRCm39) |
|
probably null |
Het |
| Fbxo44 |
A |
G |
4: 148,240,707 (GRCm39) |
Y227H |
probably damaging |
Het |
| Gm5114 |
T |
A |
7: 39,058,161 (GRCm39) |
H486L |
possibly damaging |
Het |
| Grik4 |
T |
C |
9: 42,540,419 (GRCm39) |
R254G |
probably benign |
Het |
| Iqcm |
T |
C |
8: 76,304,380 (GRCm39) |
I47T |
possibly damaging |
Het |
| Kif20b |
A |
G |
19: 34,912,428 (GRCm39) |
Y278C |
probably damaging |
Het |
| Lbhd1 |
G |
A |
19: 8,861,421 (GRCm39) |
C43Y |
probably benign |
Het |
| Lrfn5 |
T |
A |
12: 61,886,816 (GRCm39) |
D201E |
probably damaging |
Het |
| Map1a |
G |
A |
2: 121,137,803 (GRCm39) |
G2635D |
probably damaging |
Het |
| Ms4a4a |
A |
T |
19: 11,356,219 (GRCm39) |
M35L |
probably benign |
Het |
| Muc5b |
A |
T |
7: 141,412,918 (GRCm39) |
I1955F |
unknown |
Het |
| Mug2 |
T |
C |
6: 122,026,746 (GRCm39) |
|
probably null |
Het |
| Nav2 |
T |
A |
7: 49,195,606 (GRCm39) |
I994N |
possibly damaging |
Het |
| Ngly1 |
T |
C |
14: 16,290,766 (GRCm38) |
|
probably benign |
Het |
| Nr1i2 |
T |
C |
16: 38,074,291 (GRCm39) |
|
probably null |
Het |
| Or51f5 |
A |
G |
7: 102,424,493 (GRCm39) |
Y254C |
probably damaging |
Het |
| Or52h9 |
T |
A |
7: 104,202,552 (GRCm39) |
V142D |
probably benign |
Het |
| Or5p69 |
A |
T |
7: 107,967,279 (GRCm39) |
D194V |
probably damaging |
Het |
| Oxct2a |
C |
T |
4: 123,216,266 (GRCm39) |
V372I |
probably benign |
Het |
| Pax6 |
G |
A |
2: 105,526,795 (GRCm39) |
E234K |
probably benign |
Het |
| Pramel14 |
T |
A |
4: 143,720,796 (GRCm39) |
K48N |
probably benign |
Het |
| Prkdc |
A |
G |
16: 15,609,810 (GRCm39) |
E3138G |
probably damaging |
Het |
| Ptprc |
T |
A |
1: 138,011,305 (GRCm39) |
N584I |
probably damaging |
Het |
| Ptprt |
A |
G |
2: 161,389,307 (GRCm39) |
V1261A |
probably damaging |
Het |
| Rps20 |
A |
T |
4: 3,834,610 (GRCm39) |
I84N |
probably damaging |
Het |
| Scd3 |
A |
G |
19: 44,230,156 (GRCm39) |
Y313C |
probably damaging |
Het |
| Sertad2 |
T |
C |
11: 20,598,482 (GRCm39) |
I226T |
probably benign |
Het |
| Slc15a2 |
A |
T |
16: 36,592,490 (GRCm39) |
C191* |
probably null |
Het |
| Slco1a1 |
G |
T |
6: 141,889,163 (GRCm39) |
Q50K |
possibly damaging |
Het |
| Stab2 |
A |
T |
10: 86,785,776 (GRCm39) |
I622N |
possibly damaging |
Het |
| Tmc4 |
C |
T |
7: 3,675,006 (GRCm39) |
V222M |
probably benign |
Het |
| Tmem145 |
T |
C |
7: 25,010,786 (GRCm39) |
F359L |
probably damaging |
Het |
| Tmem238 |
C |
A |
7: 4,792,078 (GRCm39) |
R155L |
possibly damaging |
Het |
| Vmn1r32 |
C |
A |
6: 66,530,647 (GRCm39) |
C43F |
probably benign |
Het |
| Vmn2r104 |
C |
T |
17: 20,250,183 (GRCm39) |
R696K |
probably benign |
Het |
|
| Other mutations in Fam114a1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00674:Fam114a1
|
APN |
5 |
65,137,347 (GRCm39) |
missense |
probably benign |
0.31 |
|
IGL01013:Fam114a1
|
APN |
5 |
65,188,738 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02032:Fam114a1
|
APN |
5 |
65,172,714 (GRCm39) |
missense |
probably benign |
0.11 |
|
IGL02117:Fam114a1
|
APN |
5 |
65,187,465 (GRCm39) |
missense |
probably benign |
0.08 |
|
IGL02388:Fam114a1
|
APN |
5 |
65,166,323 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02563:Fam114a1
|
APN |
5 |
65,163,491 (GRCm39) |
splice site |
probably null |
|
|
IGL02803:Fam114a1
|
APN |
5 |
65,163,135 (GRCm39) |
splice site |
probably benign |
|
|
R1183:Fam114a1
|
UTSW |
5 |
65,191,731 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2073:Fam114a1
|
UTSW |
5 |
65,153,247 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2086:Fam114a1
|
UTSW |
5 |
65,137,402 (GRCm39) |
missense |
probably benign |
0.39 |
|
R4519:Fam114a1
|
UTSW |
5 |
65,163,225 (GRCm39) |
missense |
probably benign |
|
|
R4749:Fam114a1
|
UTSW |
5 |
65,166,409 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4937:Fam114a1
|
UTSW |
5 |
65,137,070 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5038:Fam114a1
|
UTSW |
5 |
65,166,388 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5096:Fam114a1
|
UTSW |
5 |
65,137,234 (GRCm39) |
missense |
probably benign |
|
|
R5368:Fam114a1
|
UTSW |
5 |
65,163,452 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R5460:Fam114a1
|
UTSW |
5 |
65,185,776 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5734:Fam114a1
|
UTSW |
5 |
65,166,389 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6242:Fam114a1
|
UTSW |
5 |
65,188,695 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6950:Fam114a1
|
UTSW |
5 |
65,137,322 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R7460:Fam114a1
|
UTSW |
5 |
65,196,050 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R7570:Fam114a1
|
UTSW |
5 |
65,187,402 (GRCm39) |
splice site |
probably null |
|
|
R8913:Fam114a1
|
UTSW |
5 |
65,185,821 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R9095:Fam114a1
|
UTSW |
5 |
65,188,733 (GRCm39) |
missense |
probably benign |
0.08 |
|
R9171:Fam114a1
|
UTSW |
5 |
65,191,713 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R9203:Fam114a1
|
UTSW |
5 |
65,137,300 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9318:Fam114a1
|
UTSW |
5 |
65,153,227 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R9640:Fam114a1
|
UTSW |
5 |
65,166,394 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9656:Fam114a1
|
UTSW |
5 |
65,163,246 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTGCCAATTCTGCATCTCC -3'
(R):5'- TCCAAAGTCAGGAGTGAGGC -3'
Sequencing Primer
(F):5'- CTGATGCTGAAAACGGAATCTCTG -3'
(R):5'- GAGGCAGCCTTCTCTCTGATG -3'
|
| Posted On |
2015-04-06 |
Incidental Mutation